title: RTEL1 and TERT polymorphisms are associated with astrocytoma risk in the Chinese Han population.
abstract: Common variants of multiple genes play a role in glioma onset. However, research related to astrocytoma, the most common primary brain neoplasm, is rare. In this study, we chose 21 tagging SNPs (tSNPs), previously reported to be associated with glioma risk in a Chinese case-control study from Xi'an, China, and identified their contributions to astrocytoma susceptibility. We found an association with astrocytoma susceptibility for two tSNPs (rs6010620 and rs2853676) in two different genes: regulator of telomere elongation helicase 1 (RTEL1) and telomerase reverse transcriptase (TERT), respectively. We confirmed our results using recessive, dominant, and additive models. In the recessive model, we found two tSNPs (rs2297440 and rs6010620) associated with increased astrocytoma risk. In the dominant model, we found that rs2853676 was associated with increased astrocytoma risk. In the additive model, all three tSNPs (rs2297440, rs2853676, and rs6010620) were associated with increased astrocytoma risk. Our results demonstrate, for the first time, the potential roles of RTEL1 and TERT in astrocytoma development.
authors.affiliation: School of Life Sciences, Northwest University, Xi'an, 710069, China.
authors.forename: Tian-Bo
authors.initials: TB
authors.lastname: Jin
authors.forename: Jia-Yi
authors.initials: JY
authors.lastname: Zhang
authors.forename: Gang
authors.initials: G
authors.lastname: Li
authors.forename: Shu-Li
authors.initials: SL
authors.lastname: Du
authors.forename: Ting-Ting
authors.initials: TT
authors.lastname: Geng
authors.forename: Jing
authors.initials: J
authors.lastname: Gao
authors.forename: Qian-Ping
authors.initials: QP
authors.lastname: Liu
authors.forename: Guo-Dong
authors.initials: GD
authors.lastname: Gao
authors.forename: Long-Li
authors.initials: LL
authors.lastname: Kang
authors.forename: Chao
authors.initials: C
authors.lastname: Chen
authors.forename: Shan-Qu
authors.initials: SQ
authors.lastname: Li
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics; D001254:Astrocytoma / Q000208:ethnology / Q000235:genetics*; D001932:Brain Neoplasms / Q000208:ethnology / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002681:China; D004265:DNA Helicases / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D019098:Telomerase / Q000235:genetics*; D055815:Young Adult
chemical_list: C509186:TERT protein, human; D019098:Telomerase; C532890:RTEL1 protein, human; D004265:DNA Helicases